ClinVar Miner

List of variants in gene SACS reported by Myriad Genetics, Inc.

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs) rs2542399802
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs) rs2542399631
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter) rs2542399042
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter) rs2542396806
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter) rs2542396639
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs) rs2542395317
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs) rs2542393839
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter) rs983822008
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs) rs2542392671
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter) rs2542391731
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs) rs2542474575
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs) rs2542391320
NM_014363.6(SACS):c.343A>T (p.Lys115Ter) rs2542458038
NM_014363.6(SACS):c.497del (p.Pro166fs) rs2542415834
NM_014363.6(SACS):c.529A>T (p.Arg177Ter) rs2542415633
NM_014363.6(SACS):c.542del (p.Lys181fs) rs2542415556
NM_014363.6(SACS):c.554_555del (p.Leu185fs) rs2542415445
NM_014363.6(SACS):c.563_564del (p.Gly188fs) rs2542415349
NM_014363.6(SACS):c.579del (p.Phe194fs) rs2542415204
NM_014363.6(SACS):c.622_640del (p.Ser208fs) rs2542404536
NM_014363.6(SACS):c.742_743del (p.Ala248fs) rs2542403567
NM_014363.6(SACS):c.884T>A (p.Leu295Ter) rs2542402017
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs) rs2542401843
NM_014363.6(SACS):c.998_999del (p.Val333fs) rs2542400785

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